E127D (p.Glu127Asp) variant of IL2RA (P01589)
E127D (p.Glu127Asp) in IL2RA (P01589) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E127D (p.Glu127Asp) variant details
- p.Glu127Asp
- TOPMed rs1404513355
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.18
- CADD 19.40
- PolyPhen-2 0.47
- SIFT 0.09
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available